Gerbode Ventricular Septal Defect –A Rare Cardiac Anomaly Associated with Genetic Variants in Indian Population- A Case Series
Journal Title: Journal of Clinical and Diagnostic Research - Year 2017, Vol 11, Issue 3
Abstract
Gerbode defects are rare Ventricular Septal Defects (VSD) constituting approximately one percent cases of congenital heart diseases. The genetic predispositions towards the Gerbode Defect (GD) have remained an unexplored area of study till date. We investigated the genotype-phenotype correlation in patients with Gerbode VSD. Molecular genetic study on Sanger sequencing and subsequent data analysis showed that the contributing sequence variations in the NKX2-5, GATA4 and TBX5 gene lies in one of the highly conserved regions and this region is responsible for encoding a functional protein. The resulting genotype variation may be responsible for causing the diseased phenotype known as GD.
Authors and Affiliations
Yashvanthi Borkar, Krishnananda Nayak, Ranjan K. Shetty, Gopalakrishna Bhat, Rajasekhar Moka
Keywords
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- EP ID EP334279
- DOI 10.7860/JCDR/2017/23820.9549
- Views 70
- Downloads 0
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